PDF(Pubmed)
Abstract：
BACKGROUND: Digital Polymerase Chain Reaction (dPCR) presents a promising approach for quantifying DNA and analyzing copy number variants, particularly in non-invasive prenatal testing. This method offers a streamlined and time-efficient procedure in contrast to the widely used next-generation sequencing for non-invasive prenatal testing. Studies have reported encouraging results for dPCR in detecting fetal autosomal aneuploidies. Consequently, this systematic review aimed to evaluate the effectiveness of dPCR in screening for trisomy 21, 18, and 13.
METHODS: A systematic search was conducted in PubMed, Web of Sciences, and Embase for relevant articles published up to December 30, 2023. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) was utilized for the quality assessment of the included articles. Furthermore, a bivariate random-effect regression model was used to conduct a meta-analysis on the utility of dPCR for trisomy 21 screening.
RESULTS: A total of 9 articles were included in this review, with all of them assessing the utility of dPCR in trisomy 21 screening, and 2 and 1 studies conducting additional analysis on the screening abilities of dPCR for trisomy 18 and 13, respectively. A bivariate random-effects model calculated pooled sensitivity and specificity with a 95% confidence interval (CI). Meta-analysis of 6 studies comparing trisomy-21 screening with karyotyping demonstrated dPCR\'s pooled sensitivity of 98% [95% CI: 94 -100] and specificity of 99% [95% CI: 99 -100]. While conducting a meta-analysis for trisomy 13 and 18 proved impractical, reported values for sensitivity and specificity were favorable.
CONCLUSIONS: These findings suggest that dPCR holds promise as an effective tool for non-invasive prenatal testing, presenting a less time-consuming and intricate alternative to next-generation sequencing. However, further research is necessary to evaluate dPCR\'s applicability in clinical settings and to delineate its specific advantages over next-generation sequencing. This study contributes valuable insights into the potential of dPCR for enhancing prenatal screening methodologies.
BACKGROUND: The protocol of this study was registered in the International Prospective Register of Systematic Reviews (PROSPERO) on 7/3/2024, with a registration code of CRD42024517523.
METHODS: A systematic search was conducted in PubMed, Web of Sciences, and Embase for relevant articles published up to December 30, 2023. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) was utilized for the quality assessment of the included articles. Furthermore, a bivariate random-effect regression model was used to conduct a meta-analysis on the utility of dPCR for trisomy 21 screening.
RESULTS: A total of 9 articles were included in this review, with all of them assessing the utility of dPCR in trisomy 21 screening, and 2 and 1 studies conducting additional analysis on the screening abilities of dPCR for trisomy 18 and 13, respectively. A bivariate random-effects model calculated pooled sensitivity and specificity with a 95% confidence interval (CI). Meta-analysis of 6 studies comparing trisomy-21 screening with karyotyping demonstrated dPCR\'s pooled sensitivity of 98% [95% CI: 94 -100] and specificity of 99% [95% CI: 99 -100]. While conducting a meta-analysis for trisomy 13 and 18 proved impractical, reported values for sensitivity and specificity were favorable.
CONCLUSIONS: These findings suggest that dPCR holds promise as an effective tool for non-invasive prenatal testing, presenting a less time-consuming and intricate alternative to next-generation sequencing. However, further research is necessary to evaluate dPCR\'s applicability in clinical settings and to delineate its specific advantages over next-generation sequencing. This study contributes valuable insights into the potential of dPCR for enhancing prenatal screening methodologies.
BACKGROUND: The protocol of this study was registered in the International Prospective Register of Systematic Reviews (PROSPERO) on 7/3/2024, with a registration code of CRD42024517523.
摘要：
背景：数字聚合酶链反应（dPCR）为定量DNA和分析拷贝数变异提供了一种有前途的方法，特别是在非侵入性产前检查中。与广泛用于非侵入性产前检查的下一代测序相比，该方法提供了简化且省时的程序。研究报告了dPCR检测胎儿常染色体非整倍体的令人鼓舞的结果。因此,本系统综述旨在评估dPCR筛查21,18和13三体的有效性.
方法：在PubMed中进行了系统搜索，WebofSciences,以及截至2023年12月30日发表的相关文章的Embase。诊断准确性研究质量评估-2（QUADAS-2）用于所包括文章的质量评估。此外，使用双变量随机效应回归模型对dPCR用于21三体筛查的效用进行荟萃分析.
结果：本综述共包括9篇文章，他们都评估了dPCR在21三体筛查中的实用性，2和1项研究分别对dPCR对18和13三体的筛选能力进行了额外分析。双变量随机效应模型以95%置信区间(CI)计算合并的敏感性和特异性。对6项比较21三体筛查与核型分析的研究进行的荟萃分析显示，dPCR的合并敏感性为98%[95%CI:94-100]，特异性为99%[95%CI:99-100]。虽然对13和18三体进行荟萃分析被证明是不切实际的，报告的敏感性和特异性值是有利的.
结论：这些研究结果表明，dPCR有望成为非侵入性产前检测的有效工具。为下一代测序提供了一种耗时少、复杂的替代方案。然而,需要进一步的研究来评估dPCR在临床环境中的适用性,并描述其相对于下一代测序的特定优势.这项研究为dPCR增强产前筛查方法的潜力提供了有价值的见解。
背景：本研究的方案于2024年7月3日在国际前瞻性系统审查登记册（PROSPERO）中注册，注册码为CRD42024517523。
方法：在PubMed中进行了系统搜索，WebofSciences,以及截至2023年12月30日发表的相关文章的Embase。诊断准确性研究质量评估-2（QUADAS-2）用于所包括文章的质量评估。此外，使用双变量随机效应回归模型对dPCR用于21三体筛查的效用进行荟萃分析.
结果：本综述共包括9篇文章，他们都评估了dPCR在21三体筛查中的实用性，2和1项研究分别对dPCR对18和13三体的筛选能力进行了额外分析。双变量随机效应模型以95%置信区间(CI)计算合并的敏感性和特异性。对6项比较21三体筛查与核型分析的研究进行的荟萃分析显示，dPCR的合并敏感性为98%[95%CI:94-100]，特异性为99%[95%CI:99-100]。虽然对13和18三体进行荟萃分析被证明是不切实际的，报告的敏感性和特异性值是有利的.
结论：这些研究结果表明，dPCR有望成为非侵入性产前检测的有效工具。为下一代测序提供了一种耗时少、复杂的替代方案。然而,需要进一步的研究来评估dPCR在临床环境中的适用性,并描述其相对于下一代测序的特定优势.这项研究为dPCR增强产前筛查方法的潜力提供了有价值的见解。
背景：本研究的方案于2024年7月3日在国际前瞻性系统审查登记册（PROSPERO）中注册，注册码为CRD42024517523。
